E64* (p.Glu64Ter) variant of TNNI3 (Troponin I, cardiac muscle)
E64* (p.Glu64Ter) in TNNI3 (Troponin I, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
E64* (p.Glu64Ter) variant details
- p.Glu64Ter
- rs1245885836
- ClinGen CA407441911
- ClinVar RCV000628965
- TOPMed rs1245885836
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available